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Symbol
Name
ID

Twist1
twist basic helix-loop-helix transcription factor 1
MGI:98872

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Posterior fossa cyst

Microcephaly

Blepharospasm

Ectopic posterior pituitary

Optic nerve hypoplasia

Hydrocephalus

Ventriculomegaly

Agenesis of corpus callosum

Partial agenesis of the corpus callosum

Absent septum pellucidum

Megalencephaly

Abnormal morphology of the limbic system

Cerebellar hypoplasia

Chiari type I malformation

Arachnoid cyst

Increased intracranial pressure

Delayed speech and language development

Autism

Diminished ability to concentrate

Intellectual disability

Intellectual disability, moderate

Sleep apnea

Obstructive sleep apnea

Headache

Migraine

Global developmental delay

Mild global developmental delay

Seizure

Disease(s) Associated with TWIST1

acrocephalosyndactylia

craniosynostosis

Saethre-Chotzen syndrome

Sweeney-Cox syndrome

Mouse Phenotypes		nervous system phenotype	open neural tube	abnormal brain morphology	exencephaly	decreased prepulse inhibition
Availability	Mouse Genotype	nervous system phenotype	open neural tube	abnormal brain morphology	exencephaly	decreased prepulse inhibition
	Twist1^Pas/Twist1^Pas
	Twist1^Pde/Twist1^Pde
	Twist1^Ska10/Twist1^Ska10	*
	Twist1^tm1Bhr/Twist1^tm1Bhr
	Twist1^{em1(IMPC)Rbrc}/Twist1⁺
	Twist1^tm1Bhr/Twist1^tm2.1Bhr

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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